Linked Data
ClinVar Variation Id:
347369
ClinVar RCV Id:
RCV000304058
dbSNP Id:
rs183712097
gnomAD v2:
4-119201226-A-G
gnomAD v3:
4-118280071-A-G
gnomAD v4:
4-118280071-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.118280071A>G , CM000666.2:g.118280071A>G | GRCh38 |
| NC_000004.11:g.119201226A>G , CM000666.1:g.119201226A>G | GRCh37 |
| NC_000004.10:g.119420674A>G | NCBI36 |
| NG_023350.1:g.77697T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296498.3:c.*1865T>C MANE Select | ENSP00000296498.3:n.*1865T>C | |
| NM_003619.3:c.*1865T>C | NP_003610.2:n.*1865T>C | |
| NM_003619.4:c.*1865T>C MANE Select | NP_003610.2:n.*1865T>C |